Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3312818014 | Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3312819018 | Hydrocephalus with cleft palate and joint contracture syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3312820012 | Aase Smith type 1 syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3312837017 | Aase Smith I syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3312822016 | A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | anomalie congénitale | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Bone structure of head | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Extrapyramidal disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets